Molecular genetic anlaysis of CASR gene

2015 Fiscal Year Final Research Report

• Project/Area Number: 26860715
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Endocrinology
• Research Institution: National Center for Child Health and Development
• Principal Investigator: Nakamura Akie 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 研究員 (90724708)
• Project Period (FY): 2014-04-01 – 2016-03-31
• Keywords: カルシウム

Outline of Final Research Achievements

To clarify the moleculr basis of calcium homeostasis, we performed mutation analysis for the genes associated with calcium homeostasis using next-generation sequencing . We identified novel CASR mutations in one familial case and one sporadic case with hypocalcemia. Furthermore, we found out novel pathotenic mutations in FAM111A, CLDN16 and GATA3. We also found out that complex genomic rearrangement within the GNAS region are associated with familial pseudohypoparathyoroidism type 1b.

Free Research Field

小児内分泌